M31T (p.Met31Thr) variant of ATP1A3 (P13637)
M31T (p.Met31Thr) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Dystonia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
M31T (p.Met31Thr) variant details
- p.Met31Thr
- rs1461631461
- ClinGen CA406057628
- ClinVar RCV002942921
- ClinVar RCV006275136
- Uncertain significance
- not provided; Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- AlphaMissense 0.82
- MetaLR 0.59
- MetaSVM -0.08
- PolyPhen-2 0.02
- SIFT 0.01
- MutPred 0.47
- ClinVar: Uncertain significance (not provided; Dystonia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)